ArticleNature communications2017
Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 5 of them syntheses that pooled it.
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Who cites it
60 citing papers in PubMed, 5 syntheses or guidelines pooled it, 96 citations in OpenAlex.
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- Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass.Journal of human genetics · 2021Pooled it
- Three pleiotropic loci associated with bone mineral density and lean body mass.Molecular genetics and genomics : MGG · 2021Pooled it
- Replication of FTO Gene associated with lean mass in a Meta-Analysis of Genome-Wide Association Studies.Scientific reports · 2020Pooled it
- Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.Human molecular genetics · 2018Pooled it
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- Causal genes for osteoporosis: Mendelian randomization analysis with multilayer xQTL data.Medicine · 2026Article
- The Rising Burden of Osteosarcopenia in Older Adults: A Narrative Review of Pathophysiology, Diagnostic Challenges, and Therapeutic Perspectives.Health science reports · 2026Article
- Genetic and epidemiologic assessment of mandibular cortical indices and bone mineral density in peripubertal children: the Generation R study.Clinical oral investigations · 2025Article
- Changes in methylation associated with development of metabolic syndrome in testicular cancer patients treated with cisplatin chemotherapy.Scientific reports · 2025Article
- Exploring the shared genetic architecture of type 2 diabetes mellitus and bone mineral density.Archives of osteoporosis · 2025Article
- Systematic druggable genome-wide Mendelian randomization identifies therapeutic targets for osteoporosis.Osteoporosis and sarcopenia · 2025Article
- Loss ofJBMR plus · 2025Article
- Multi-trait Genome-Wide Analysis Identified 20 Novel Loci for Sarcopenia-Related Traits in UK Biobank.Calcified tissue international · 2025Article
- Wnt family members regulating osteogenesis and their origins.Journal of bone and mineral metabolism · 2025Review
- Analysis of Genome-Wide Association Studies.Methods in molecular biology (Clifton, N.J.) · 2025Article
- fastMETA: a fast and efficient tool for multivariate meta-analysis of GWAS.Frontiers in genetics · 2025Article
- Host-specific effects of Eubacterium species on Rg3-mediated modulation of osteosarcopenia in a genetically diverse mouse population.Microbiome · 2024Article
- Loss ofbioRxiv : the preprint server for biology · 2024Article
- Integrative high-throughput enhancer surveying and functional verification divulges a YY2-condensed regulatory axis conferring risk for osteoporosis.Cell genomics · 2024Article
Corrections and comments
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Authors and funding
34 authors at 19 institutions in 9 countries.
Funding
Abstract
Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS meta-analysis of total-body lean mass (TB-LM) and total-body less head bone mineral density (TBLH-BMD) regions in 10,414 children. The estimated SNP heritability is 43% (95% CI: 34-52%) for TBLH-BMD, and 39% (95% CI: 30-48%) for TB-LM, with a shared genetic component of 43% (95% CI: 29-56%). We identify variants with pleiotropic effects in eight loci, including seven established bone mineral density loci: WNT4, GALNT3, MEPE, CPED1/WNT16, TNFSF11, RIN3, and PPP6R3/LRP5. Variants in the TOM1L2/SREBF1 locus exert opposing effects TB-LM and TBLH-BMD, and have a stronger association with the former trait. We show that SREBF1 is expressed in murine and human osteoblasts, as well as in human muscle tissue. This is the first bivariate GWAS meta-analysis to demonstrate genetic factors with pleiotropic effects on bone mineral density and lean mass.Bone mineral density and lean skeletal mass are heritable traits. Here, Medina-Gomez and colleagues perform bivariate GWAS analyses of total body lean mass and bone mass density in children, and show genetic loci with pleiotropic effects on both traits.
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